Nemaline myopathy

Moshe Bronshtein

Haifa, Israel.

Case report

A 30-year-old primipara was seen in our unit at 13 weeks of gestation. Both parents were asymptomatic heterozygotic carriers of Nemaline myopathy. The ultrasonographic examination at 13 weeks revealed single umbilical artery, abnormal curvature of fetal spine, but with normal shape of vertebral bodies, and absence of gross fetal movements. The diagnosis of the Nemaline myopathy was confirmed by chorionic villus sampling (CVS).

Images 1, 2, 3, and video 1
: The images and video show abnormal curvature of fetal spine with normal shape of vertebral bodies. Absence of gross fetal movements was present during 30 minutes of examination.



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